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Journal of Neurology|March 22, 2015
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutationsMaria A Rocca, Stefania Bianchi-Marzoli, Roberta Messina, et al.
American Journal of Human Genetics|December 11, 2012
Cowchock syndrome is associated with a mutation in apoptosis-inducing factorCarlo Rinaldi, Christopher Grunseich, Irina F Sevrioukova, et al.
Archives of Neurology|July 14, 2010
Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosisVeronica Crugnola, Costanza Lamperti, Valeria Lucchini, et al.
FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology|March 7, 2009
Nitric oxide deficiency determines global chromatin changes in Duchenne muscular dystrophyClaudia Colussi, Aymone Gurtner, Jessica Rosati, et al.
Frontiers in Neurology|June 28, 2021
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic VariantsLorenzo Peverelli, Alessia Catania, Silvia Marchet, et al.
Neurobiology of Aging|September 25, 2007
Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutationAnna Bersano, Roberto Del Bo, Costanza Lamperti, et al.
JIMD Reports|April 18, 2014
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial EncephalocardiomyopathyDaria Diodato, Federica Invernizzi, Eleonora Lamantea, et al.
Orphanet Journal of Rare Diseases|October 10, 2021
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseasesAnna Ardissone, Claudio Bruno, Daria Diodato, et al.
Frontiers in Neurology|March 16, 2019
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial PatientsOlimpia Musumeci, Emanuele Barca, Costanza Lamperti, et al.
American Journal of Human Genetics|May 5, 2009
The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiencyAlessio Di Fonzo, Dario Ronchi, Tiziana Lodi, et al.
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